Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease

C Towns, ZH Fang, MMX Tan, S Jasaityte… - npj Parkinson's …, 2024 - nature.com
Abstract The Parkinson's Families Project is a UK-wide study aimed at identifying genetic
variation associated with familial and early-onset Parkinson's disease (PD). We recruited …

Insights into Ancestral Diversity in Parkinsons Disease Risk: A Comparative Assessment of Polygenic Risk Scores

PS Awad, MB Makarious, I Elsayed, A Sanyaolu… - MedRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Objectives To evaluate and compare different polygenic risk score (PRS) models in
predicting Parkinsons disease (PD) across diverse ancestries, focusing on identifying the …

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations

F Akcimen, K Paquette, PW Crea, P Saffie-Awad… - medRxiv, 2025 - medrxiv.org
Elucidating the genetic contributions to Parkinson′ s disease (PD) etiology across diverse
ancestries is a critical priority in the development of targeted therapies in a global context …

[HTML][HTML] The LRRK2 p. L1795F variant causes Parkinson's disease in the European population

LM Lange, K Levine, SH Fox, C Marras… - Research …, 2024 - pmc.ncbi.nlm.nih.gov
Pathogenic variants in the LRRK2 gene represent the most common cause of autosomal
dominant Parkinson's disease (PD) worldwide. We identified the LRRK2 p. L1795F variant …

Increased burden of rare risk variants across gene expression networks predisposes to sporadic Parkinson's disease

E Eubanks, K VanderSleen, J Mody, N Patel… - …, 2024 - pmc.ncbi.nlm.nih.gov
Alpha-synuclein (αSyn) is an intrinsically disordered protein that accumulates in the brains
of patients with Parkinson's disease and forms intraneuronal inclusions called Lewy Bodies …

The Role of Genomic-Informed Risk Assessments in Predicting Dementia Outcomes

SJ Andrews, C Jonson, B Fulton-Howard… - medRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Importance: By integrating genetic and clinical risk factors into genomic-informed dementia
risk reports, healthcare providers can offer patients detailed risk profiles to facilitate …

CNV-Finder: Streamlining Copy Number Variation Discovery

N Kuznetsov, K Daida, MB Makarious, B Al-Mubarak… - bioRxiv, 2024 - biorxiv.org
Copy Number Variations (CNVs) play pivotal roles in the etiology of complex diseases and
are variable across diverse populations. Understanding the association between CNVs and …

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across …

M Khani, F Akçimen, SM Grant, SC Akerman, PS Lee… - medRxiv, 2024 - medrxiv.org
Alzheimer's disease and related dementias (AD/ADRDs) pose a significant global public
health challenge, underscored by the intricate interplay of genetic and environmental factors …

Parkinson's Families Project: a UK-wide study of early onset and familial Parkinson's disease

C Towns, ZH Fang, MMX Tan, S Jasaityte… - medRxiv, 2023 - medrxiv.org
The Parkinson′ s Families Project is a UK-wide study aimed at identifying genetic variation
associated with familial and early-onset Parkinson′ s disease (PD). We recruited …

Cluster Buster: A Machine Learning Algorithm for Genoty** SNPs from Raw Data

J Martin, N Kuznetsov, K Levine, MJ Koretsky… - …, 2024 - pmc.ncbi.nlm.nih.gov
Genoty** single nucleotide polymorphisms (SNPs) is fundamental to disease research, as
researchers seek to establish links between genetic variation and disease. Although …